ABSTRACT
INTRODUCTION: Papillary thyroid cancer corresponds to approximately 1% of all carcinomas; nevertheless, it is the most prevalent endocrine neoplasm in the world. Studies reveal that the BAX (-248 G > A) polymorphism may be associated with negative regulation of BAX gene transcription activity, causing a decrease in its protein expression. OBJECTIVE: The present study aimed to describe the genotype and allele frequencies of BAX single nucleotide polymorphisms (-248 G > A) (rs4645878) in the research patients, and to associate its presence with susceptibility to papillary thyroid cancer. METHODS: This case-control study was conducted with 30 patients with papillary thyroid cancer. For the evaluation of genetic polymorphisms, the polymerase chain reaction-restriction fragment length polymorphism technique was employed. Allele and genotype frequencies were estimated using the SPSS program, and significant associations were considered when p < 0.05. RESULTS: There was a significant genotypic difference between papillary thyroid cancer and the control group (p = 0.042). The GG genotype provided a protective factor for papillary thyroid cancer (p = 0.012, odds ratio (OR) = 0.313; confidence interval (CI) = 0.123-0.794). Likewise the G allele was a protective factor for papillary thyroid cancer (p = 0.009; OR = 0.360; CI = 0.163-0.793). The BAX gene polymorphism (-248 G > A) was associated with papillary thyroid cancer. CONCLUSION: BAX (-248 G > A) GG genotype carriers, or at least one mutated allele, was associated with papillary thyroid cancer in the Brazilian population studied, and the G allele presence is considered a protective factor against papillary thyroid cancer occurrence.
Subject(s)
Carcinoma, Papillary , Thyroid Neoplasms , Brazil , Carcinoma, Papillary/genetics , Case-Control Studies , Gene Frequency , Genetic Predisposition to Disease , Genotype , Humans , Polymorphism, Single Nucleotide , Thyroid Neoplasms/epidemiology , Thyroid Neoplasms/genetics , bcl-2-Associated X Protein/geneticsABSTRACT
Papillary thyroid cancer (PTC) is the most common thyroid malignancy. Genetic and epigenetic alterations play a decisive role in the onset of several human neoplasms. Mutations and polymorphisms are two frequent genetic alterations. Located on chromosome 19 (19p13.11), the NIS SLC5A5 (solute carrier family 5 member 5) gene encodes a highly specialized and efficient 80-90 kDa transmembrane glycoprotein that mediates active transport of iodide from the bloodstream into the follicular cells. Given the highly significant role of NIS in the physiology and the cancer pathogenesis process, this paper's objective is to provide a comprehensive assessment of the associations between NIS gene and protein with papillary thyroid cancer.
